Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL3
Variant:p.R277Q

OSBPL3

77 papers

RefSeq Summary

This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserve...

Pfam Domains

PH_8aa 52–150UCSCPleckstrin homology domain
Oxysterol_BPaa 527–874UCSCOxysterol-binding protein

Gene Aliases

HGNC Name

oxysterol binding protein like 3

HGNC Previous Symbol

OSBP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015550.4
p.R277Q
c.830G>A
Surrounding Variants
2 papers
NM_015550.4
p.S278F
c.833C>T
1 paper
NM_015550.4
p.R274G
c.820A>G
1 paper
NM_015550.4
p.H273Q
c.819C>G
1 paper
NM_015550.4
p.H273Q
c.819C>A
1 paper
NM_015550.4
p.S272L
c.815C>T
1 paper
NM_015550.4
p.R271insFs
c.811dupA
1 paper
NM_015550.4
p.R271K
c.812G>A
1 paper
NM_015550.4
p.D284H
c.850G>C
1 paper
NM_015550.4
p.E269K
c.805G>A
1 paper
NM_015550.4
p.P266L
c.797C>T
1 paper
NM_015550.4
p.Q259_G260Splc
c.778-1G>A
1 paper
NM_015550.4
p.A257D
c.770C>A
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